Novel mutation in the MED23 gene for intellectual disability: A case report and literature review

MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These r...

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Detalles Bibliográficos
Autores principales: Hashemi‐Gorji, Feyzollah, Fardaei, Majid, Tabei, Seyed Mohammad Bagher, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389469/
https://www.ncbi.nlm.nih.gov/pubmed/30847200
http://dx.doi.org/10.1002/ccr3.1942
Descripción
Sumario:MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These results expand the clinical and mutation spectrum of MED23 deficiency.

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